Shining a light on polycystic ovary syndrome

September 29, 2015 – In the largest genome wide association study (GWAS) into polycystic ovary syndrome (PCOS) to date, new research conducted by scientists at the University of Cambridge and ten other institutions, including 23andMe, has identified genetic variants and causal links associated with PCOS, some of which might be relevant to informing positive lifestyle and treatment choices for women.

Published this week in the journal Nature Communications, this study looked at genetic information from more than 200,000 women.

“We estimate that one in every five women in the UK have polycystic ovaries and therefore research such as this is critical to advance our understanding and help us to better tackle the disease,” said Dr. John Perry of the Medical Research Council (MRC) Epidemiology Unit at the University of Cambridge, and study co-lead. “Not only did we find new genetic markers for PCOS, and confirm some linkages seen in previous studies, but our analyses also help us to understand the underlying biology of the disease in more detail.”

The study found that the risk of PCOS was increased by genetic variants that are known to act by increasing body mass index (BMI) and insulin resistance. The findings indicate that therapies that counteract these mechanisms could be beneficial in women with PCOS.

“Previous studies had suggested that weight loss has only partial benefits for women with PCOS,” said Dr Ken Ong, of the MRC Epidemiology Unit and study co-lead. “We recommend that new studies should be done to test whether more intensive efforts to reduce body weight and improve insulin resistance are effective in treating women with PCOS.”

In additional to these causal links, the study also identified new genetic variants that implicate three of the four epidermal growth factor receptors, which are known targets of some modern cancer therapies. This opens up new avenues of research into future treatments in PCOS. Another new variant identified in the FSHB gene (which encodes the beta subunit of ‘follicle stimulating hormone’ FSH), indicates that low levels of FSH may also contribute to the development of PCOS.

PCOS is a condition that impacts how a woman’s ovaries work. It is very common, affecting millions of women in the UK. It is a leading cause of fertility problems and is also associated with an increased risk of developing health problems in later life, such as type 2 diabetes and high cholesterol.

The researchers used genetic information from more than 5,000 women of European ancestry who are 23andMe customers, reported having PCOS and consented to research*. The study also included another 82,000 women customers of 23andMe who also consented to research but do not have the condition. Those women were used as controls for the study.

Researchers also did follow up in 2,000 other women, whose PCOS had been clinically validated, and another 100,000 women without the condition. Those women were studied by the Icelandic company deCODE, by researchers at the Erasmus Medical Center in the Netherlands, and also at the Center for Human Genetic Research at Massachusetts General Hospital in Boston, USA.

*Data was contributed by 23andMe customers who provided informed consent to take part in this research under a protocol approved by the AAHRPP-accredited institutional review board, Ethical and Independent Review Services.

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The Medical Research Council is at the forefront of scientific discovery to improve human health. Founded in 1913 to tackle tuberculosis, the MRC now invests taxpayers’ money in some of the best medical research in the world across every area of health. Thirty-one MRC-funded researchers have won Nobel prizes in a wide range of disciplines, and MRC scientists have been behind such diverse discoveries as vitamins, the structure of DNA and the link between smoking and cancer, as well as achievements such as pioneering the use of randomised controlled trials, the invention of MRI scanning, and the development of a group of antibodies used in the making of some of the most successful drugs ever developed. Today, MRC-funded scientists tackle some of the greatest health problems facing humanity in the 21st century, from the rising tide of chronic diseases associated with ageing to the threats posed by rapidly mutating micro-organisms. www.mrc.ac.uk

The MRC Epidemiology Unit is a department at the University of Cambridge. It studies the genetic, developmental and environmental factors that cause obesity, type 2 diabetes and related metabolic disorders. The outcomes from these studies are then used to develop strategies for the prevention of these diseases in the general population. www.mrc-epid.cam.ac.uk

The mission of the University of Cambridge is to contribute to society through the pursuit of education, learning and research at the highest international levels of excellence. To date, 90 affiliates of the University have won the Nobel Prize.

Founded in 1209, the University comprises 31 autonomous Colleges, which admit undergraduates and provide small-group tuition, and 150 departments, faculties and institutions.

Cambridge is a global university. Its 19,000 student body includes 3,700 international students from 120 countries. Cambridge researchers collaborate with colleagues worldwide, and the University has established larger-scale partnerships in Asia, Africa and America.

The University sits at the heart of one of the world’s largest technology clusters. The ‘Cambridge Phenomenon’ has created 1,500 hi-tech companies, 12 of them valued at over US$1 billion and two at over US$10 billion. Cambridge promotes the interface between academia and business, and has a global reputation for innovation. www.cam.ac.uk

About 23andMe

23andMe, Inc. is the leading consumer genetics and research company. Founded in 2006, the mission of the company is to help people access, understand and benefit from the human genome. The company was named by TIME as a “Genius Company” in 2018, and featured as Fast Company's #2 Most Innovative Health Company in 2018. 23andMe has millions of customers worldwide, with more than 80 percent of customers consented to participate in research. 23andMe, Inc. is located in Mountain View, CA. More information is available at www.23andMe.com.

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